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威廉姆斯综合征合并面部葡萄酒色斑和色素血管性斑痣性错构瘤病：一例报告

Williams Syndrome Associated With Facial Port-Wine Stain and Phacomatosis Pigmentovascularis: A Case Report.

作者信息

Abtahi-Naeini Bahareh, Yaghini Omid, Razavi Zahra

机构信息

Pediatric Dermatology Division of Department of Pediatrics, Imam Hossein Children's Hospital Isfahan University of Medical Sciences Isfahan Iran.

Skin Diseases and Leishmaniasis Research Center Isfahan University of Medical Sciences Isfahan Iran.

出版信息

Clin Case Rep. 2025 Sep 26;13(10):e70996. doi: 10.1002/ccr3.70996. eCollection 2025 Oct.

DOI:10.1002/ccr3.70996
PMID:41018993
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12464445/
Abstract

Williams syndrome (WS) is a rare congenital multi-systemic condition due to gene deletion. We present a rare case of co-existence of WS, port wine stains, and phacomatosis pigmentovascularis. This case emphasizes the importance of recognizing the co-occurrence of such conditions and WS for accurate diagnosis and management.

摘要

威廉姆斯综合征（WS）是一种因基因缺失导致的罕见先天性多系统疾病。我们报告了一例罕见的同时患有威廉姆斯综合征、葡萄酒色斑和色素血管性斑痣性错构瘤病的病例。该病例强调了认识这些病症与威廉姆斯综合征同时出现对于准确诊断和治疗的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5664/12464445/1bd414b89962/CCR3-13-e70996-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5664/12464445/fada53cc1fd8/CCR3-13-e70996-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5664/12464445/1bd414b89962/CCR3-13-e70996-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5664/12464445/fada53cc1fd8/CCR3-13-e70996-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5664/12464445/1bd414b89962/CCR3-13-e70996-g001.jpg

相似文献

1
Williams Syndrome Associated With Facial Port-Wine Stain and Phacomatosis Pigmentovascularis: A Case Report.威廉姆斯综合征合并面部葡萄酒色斑和色素血管性斑痣性错构瘤病：一例报告
Clin Case Rep. 2025 Sep 26;13(10):e70996. doi: 10.1002/ccr3.70996. eCollection 2025 Oct.
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Lasers or light sources for treating port-wine stains.用于治疗葡萄酒色斑的激光或光源。
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本文引用的文献

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MRI detection of occult venous anomalies in a patient with Williams syndrome: a case report.MRI 检测威廉姆斯综合征患者隐匿性静脉异常：病例报告。
Cardiol Young. 2020 Apr;30(4):568-570. doi: 10.1017/S104795112000030X. Epub 2020 Feb 27.
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Skin findings in Williams syndrome.威廉姆斯综合征的皮肤表现。
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Architecture of the subendothelial elastic fibers of small blood vessels and variations in vascular type and size.小血管的内皮下弹性纤维的结构以及血管类型和大小的变化。
Microsc Microanal. 2013 Apr;19(2):406-14. doi: 10.1017/S1431927612014341. Epub 2013 Mar 4.
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Introduction: Williams syndrome.介绍：威廉姆斯综合征。
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Williams-Beuren syndrome.威廉姆斯-贝伦综合征
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Description and analysis of treatments for port-wine stain birthmarks.葡萄酒色斑胎记的治疗方法描述与分析
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Multisystem study of 20 older adults with Williams syndrome.对20名患有威廉姆斯综合征的老年人进行的多系统研究。
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Supravalvular aortic stenosis.瓣上主动脉狭窄
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9
Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance.主动脉瓣上狭窄合并智力发育迟缓及特定面容。
Circulation. 1962 Dec;26:1235-40. doi: 10.1161/01.cir.26.6.1235.
10
Medial telangiectatic sacral nevi and MCA/MR syndromes.内侧毛细血管扩张性骶部痣与MCA/MR综合征。
Pediatr Dermatol. 2003 Jul-Aug;20(4):370-1. doi: 10.1046/j.1525-1470.2003.20326_2.x.